Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.88416725C>T | CA259907 | SPATA7 | c.253C>T (p.Arg85Ter) c.157C>T (p.Arg53Ter) n.381C>T c.211C>T (p.Arg71Ter) c.*128C>T (n.*128C>T) c.*210C>T (n.*210C>T) c.*269C>T (n.*269C>T) c.82C>T (p.Arg28Ter) c.*57C>T (n.*57C>T) n.800C>T c.234C>T (p.Asn78=) c.61C>T (p.Arg21Ter) c.100C>T (p.Arg34Ter) c.-66C>T (n.-66C>T) n.324C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.88416725C>G | CA7298476 | SPATA7 | c.253C>G (p.Arg85Gly) c.157C>G (p.Arg53Gly) n.381C>G c.211C>G (p.Arg71Gly) c.*128C>G (n.*128C>G) c.*210C>G (n.*210C>G) c.*269C>G (n.*269C>G) c.82C>G (p.Arg28Gly) c.*57C>G (n.*57C>G) n.800C>G c.234C>G (p.Asn78Lys) c.61C>G (p.Arg21Gly) c.100C>G (p.Arg34Gly) c.-66C>G (n.-66C>G) n.324C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |